Bagna R, Bertino E, Rovelli I, Peila C, Giuliani F, Occhi L, Mensa M, Mazzone R, Saracco P, Fabris C
Neonatology, Department of Pediatics, University of Turin, Turin, Italy.
Minerva Pediatr. 2010 Jun;62(3):323-7.
In this case-report a case of severe fetal anemia of unknown origin is presented. Diagnosis of fetal anemia was made at 24 weeks of gestational age, when fetal ascites was identified. Doppler sonography of medium cerebral artery showed a high systolic speed velocity (ACM-PSV), of 65 cm/s (>1.55 MoM). This value predicts a severe fetal anemia. Funicolocentesis confirmed hyporegenerative anemia, low reticulocytosis and low erythroblastosis. A fetal transfusion was performed. At birth anemia was still present and the baby presented blueberry muffin and liver erythropoietic foci. The blueberry muffin morphology presents as non-blanching, blue-red macules or firm, dome-shaped papules (2-8 mm in diameter). The eruption is often generalized but favors the trunk, head, and neck. Infectious (Toxoplasmosis, Cytomegalovirus, Rubella, Herpes, Parvo, Coxackievirus, Ebstein Barr, Syphilis), hematologic (sferocytosis, alloimmunization, foeto-maternal transfusion), metabolic, neoplastic (congenital leukemia, neuroblastome, congenital rhabdomyosarcome) and systemic (histiocytosis, lupus) pathologies indicated until now as possible disease causes were excluded. In the first day of life the neonate received a RBC transfusion for anemia (Hb=5.1 g/dL; Hct 15,7% at birth), followed within 48-72 hours by rapid disappearance of the rash, that wasn't then histologically examined. During two weeks of hospitalization reticulocytes raised spontaneously from 0.8% to 3.17%. Until two years of age the auxologic and clinical course was regular and the child is now in good health conditions. Due to the absence of systematic disease and the complete regression, no exact diagnosis and prognosis could be established in this case.
在本病例报告中，呈现了一例病因不明的严重胎儿贫血病例。胎儿贫血在孕24周时被诊断出来，当时发现有胎儿腹水。大脑中动脉多普勒超声显示收缩期峰值速度（ACM - PSV）较高，为65厘米/秒（>1.55倍中位数）。该值预示着严重的胎儿贫血。脐血穿刺证实为再生低下性贫血、低网织红细胞血症和低成红细胞增多症。进行了胎儿输血。出生时贫血仍然存在，婴儿出现了蓝莓松饼样皮疹和肝脏造血灶。蓝莓松饼样皮疹表现为不褪色的蓝红色斑疹或坚实的圆顶状丘疹（直径2 - 8毫米）。皮疹通常广泛分布，但以躯干、头部和颈部最为明显。目前已排除了感染性（弓形虫病、巨细胞病毒、风疹、疱疹、细小病毒、柯萨奇病毒、EB病毒、梅毒）、血液学（球形红细胞增多症、同种免疫、胎儿 - 母体输血）、代谢性、肿瘤性（先天性白血病、神经母细胞瘤、先天性横纹肌肉瘤）以及全身性（组织细胞增多症、狼疮）等迄今为止被认为可能是病因的疾病。出生第一天，新生儿因贫血接受了红细胞输血（出生时血红蛋白=5.1克/分升；血细胞比容15.7%），48 - 72小时内皮疹迅速消退，之后未进行组织学检查。住院两周期间，网织红细胞自发地从0.8%升至3.17%。直到两岁，生长发育和临床过程均正常，该儿童目前健康状况良好。由于没有系统性疾病且症状完全消退，该病例无法明确诊断和判断预后。
